Measurement of 7-dehydrocholesterol and cholesterol in hair can be used in the diagnosis of Smith-Lemli-Opitz syndrome

7-dehydrocholesterol (7-DHC) and cholesterol (CHOL) are biomarkers of Smith-Lemli-Opitz Syndrome (SLOS), a congenital autosomal recessive disorder characterized by elevated 7-DHC level in patients. Hair samples have been shown to have great diagnostic and research value, which has long been neglecte...

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Detalles Bibliográficos
Autores principales: Luo, Yitao, Zhang, Chengqiang, Ma, Li, Zhang, Yuxiao, Liu, Zhengyuan, Chen, Li, Wang, Rui, Luan, Yujing, Rao, Yulan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9207299/
https://www.ncbi.nlm.nih.gov/pubmed/35577137
http://dx.doi.org/10.1016/j.jlr.2022.100228

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